Details

Autor(en) / Beteiligte

• Luna, Cecilia Inés
• Fernández Cordero, Marisa
• Escruela, Romina
• Sierra, Valeria
• Córdoba, Antonela
• Goñi, Ignacio María
• Berridi, Ricardo

Titel

Congenital generalized lipodystrophy in a patient with Dandy Walker anomaly

Ist Teil von

• Archivos argentinos de pediatría, 2014-10, Vol.112 (5), p.e196-e199

Ort / Verlag

Argentina

Erscheinungsjahr

2014

Quelle

Electronic Journals Library

Beschreibungen/Notizen

• The objective of this study is to describe the unexpected association between the congenital generalized lipodystrophy (CGL) and Dandy Walker anomaly. We report the case of a 1-year-old infant who was hospitalized at her fourth month of life with Dandy Walker anomaly diagnosis and an increased social risk. During her hospitalization, she developed progressively: acromegaloid aspect, triangular fascia, hirsutism, lipoatrophy, muscle hypertrophy, clitoromegaly, abdominal distention, progressive hepatomegaly, and hypertriglyceridemia. This led to the clinical diagnosis of congenital generalized lipodystrophy. Importance should be given to the examination of clinical aspects as well as the interdisciplinary follow-up for proper detection of insulin resistance and diabetes, early puberty, cardiomyopathy, among others. In case of Dandy Walker anomaly, it should be checked the evolution to search intracranial hypertension signs. Due to its autosomal recessive nature, it is important to provide genetic counseling to the parents.